Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001194998.2(CEP152):c.4094-9A>T

Help
Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jul 20, 2021)
Last evaluated:
Apr 19, 2021
Accession:
VCV000095654.7
Variation ID:
95654
Description:
single nucleotide variant
Help

NM_001194998.2(CEP152):c.4094-9A>T

Allele ID
101551
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q21.1
Genomic location
15: 48739297 (GRCh38) GRCh38 UCSC
15: 49031494 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.48739297T>A
NC_000015.9:g.49031494T>A
NG_027518.1:g.76850A>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:48739296:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00499 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00328
Trans-Omics for Precision Medicine (TOPMed) 0.00393
The Genome Aggregation Database (gnomAD), exomes 0.00086
The Genome Aggregation Database (gnomAD) 0.00380
Trans-Omics for Precision Medicine (TOPMed) 0.00397
1000 Genomes Project 0.00499
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00299
Exome Aggregation Consortium (ExAC) 0.00112
Links
ClinGen: CA148697
dbSNP: rs80090788
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Oct 29, 2015 RCV000081687.9
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts Apr 19, 2021 RCV000890184.4
Likely benign 1 criteria provided, single submitter Jan 12, 2018 RCV000266974.2
Benign 1 criteria provided, single submitter Jan 12, 2018 RCV000324465.2
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CEP152 - - GRCh38
GRCh37
309 333

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Oct 29, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000192733.2
Submitted: (Oct 04, 2017)
Evidence details
Benign
(Jul 08, 2013)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000113618.8
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
http://browser.1000genomes.org/H…
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Seckel syndrome 5
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000392845.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Primary autosomal recessive microcephaly 9
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000392844.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Apr 19, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000723985.2
Submitted: (Jul 20, 2021)
Evidence details
Benign
(Dec 31, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001033916.2
Submitted: (Jan 29, 2020)
Evidence details

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Text-mined citations for rs80090788...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021